Product Details

Assay Reference Genome
Location

Chr.17:58214360 on build GRCh38

Cytoband

17q22

Species

Homo sapiens

Variation Type

Copy Number

Additional Information

Target Gene Details

Entrez Gene ID

54903

Gene Symbol

MKS1

Gene Name

Meckel syndrome, type 1

Gene Aliases

BBS13, MES, MKS, POC12

Location

Chr.17:58205436-58219605 on build GRCh38

Assay Gene Location

Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
MKS1	NM_001165927.1	6	607	NP_001159399.1
	NM_001321268.1	5	520	NP_001308197.1
	NM_001321269.1	6	618	NP_001308198.1
	NM_017777.3	6	618	NP_060247.2
	XM_005257485.3	6	599	XP_005257542.1
	XM_006721965.2	5	452	XP_006722028.1
	XM_011524957.2	6	598	XP_011523259.1
	XM_011524958.2	6	598	XP_011523260.1
	XM_011524959.2	6	597	XP_011523261.1
	XM_011524960.2	6	597	XP_011523262.1
	XM_017024803.1	6	566	XP_016880292.1
	XM_017024804.1	6	566	XP_016880293.1
	XM_017024805.1	6	632	XP_016880294.1
	AK000352.1	3	288	BAA91105.1
	AK301020.1	5	451
	AK310815.1	6	607
	BC010061.2	6	553	AAH10061.1
	CR457229.1	2	114	CAG33510.1
	DQ185029.1	6	618	AAZ94714.1
	KU178661.1	2	114
	KU178662.1	2	114
	KU178663.1	2	114

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